Canonical Allele Identifier: CA385516651

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975691C>T (hg19) ; chr12:g.57581908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581908C>T , CM000674.2:g.57581908C>T	GRCh38
NC_000012.11:g.57975691C>T , CM000674.1:g.57975691C>T	GRCh37
NC_000012.10:g.56261958C>T	NCBI36
NG_008155.1:g.36845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2948C>T MANE Select	ENSP00000408979.2:p.Ser983Phe
ENST00000674619.1:c.2969C>T	ENSP00000502270.1:p.Ser990Phe
ENST00000675697.1:c.39C>T
ENST00000675737.1:n.352C>T
ENST00000675882.1:n.2471C>T
ENST00000675929.1:n.1506C>T
ENST00000676055.1:c.39C>T
ENST00000676457.1:c.2843C>T	ENSP00000501588.1:p.Ser948Phe
ENST00000286452.5:c.2681C>T	ENSP00000286452.5:p.Ser894Phe
ENST00000455537.6:c.2948C>T	ENSP00000408979.2:p.Ser983Phe
ENST00000552227.1:n.231C>T
NM_004984.2:c.2948C>T	NP_004975.2:p.Ser983Phe
NM_001354705.1:c.2681C>T	NP_001341634.1:p.Ser894Phe
NM_004984.3:c.2948C>T	NP_004975.2:p.Ser983Phe
XR_002957324.1:n.3181C>T
NM_004984.4:c.2948C>T MANE Select	NP_004975.2:p.Ser983Phe
NM_001354705.2:c.2681C>T	NP_001341634.1:p.Ser894Phe